Drug Targets

Manual assertion inferred from sequence similarity toⁱ

• UniProtKB:Q9R216 (FZD9_MOUSE)

Manual assertion based on experiment inⁱ

• Ref.46

  "The C264Y missense mutation in the extracellular domain of L1 impairs protein trafficking in vitro and in vivo."
  Ruenker A.E., Bartsch U., Nave K.A., Schachner M.
  J. Neurosci. 23:277-286(2003) [PubMed] [Europe PMC] [Abstract]

  Cited for: CHARACTERIZATION OF VARIANT HSAS TYR-264, SUBCELLULAR LOCATION, GLYCOSYLATION.
• Ref.49

  "L1 syndrome mutations impair neuronal L1 function at different levels by divergent mechanisms."
  Schaefer M.K., Nam Y.C., Moumen A., Keglowich L., Bouche E., Kueffner M., Bock H.H., Rathjen F.G., Raoul C., Frotscher M.
  Neurobiol. Dis. 40:222-237(2010) [PubMed] [Europe PMC] [Abstract]

  Cited for: CHARACTERIZATION OF VARIANTS HSAS GLN-184 AND LEU-1036, FUNCTION, SUBCELLULAR LOCATION.
• Ref.51

  "L1CAM and its cell-surface mutants: new mechanisms and effects relevant to the physiology and pathology of neural cells."
  Tagliavacca L., Colombo F., Racchetti G., Meldolesi J.
  J. Neurochem. 124:397-409(2013) [PubMed] [Europe PMC] [Abstract]

  Cited for: CHARACTERIZATION OF VARIANTS MASA GLN-210 AND LYS-309, CHARACTERIZATION OF VARIANTS HSAS THR-219 AND CYS-264, CHARACTERIZATION OF VARIANT HSAS/MASA LEU-941, SUBCELLULAR LOCATION.
• Ref.53

  "L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like domains."
  Christaller W.A., Vos Y., Gebre-Medhin S., Hofstra R.M., Schaefer M.K.
  Clin. Genet. 91:115-120(2017) [PubMed] [Europe PMC] [Abstract]

  Cited for: VARIANT 789-GLN--GLU-1257 DEL, CHARACTERIZATION OF VARIANTS ASN-37; MET-38 AND ILE-172, CHARACTERIZATION OF VARIANT MASA TYR-202, SUBCELLULAR LOCATION.

<p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More...</a></p> Manual assertion inferred from sequence similarity toⁱ

• UniProtKB:Q05695 (L1CAM_RAT)